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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 13-110647235-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=110647235&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 7,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "CARS2",
"hgnc_id": 25695,
"hgvs_c": "c.1059C>A",
"hgvs_p": "p.Ile353Ile",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -5,
"transcript": "NM_024537.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_score": -5,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.67,
"chr": "13",
"clinvar_classification": "Likely benign",
"clinvar_disease": "Combined oxidative phosphorylation defect type 27",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.6700000166893005,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 564,
"aa_ref": "I",
"aa_start": 353,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1838,
"cdna_start": 1082,
"cds_end": null,
"cds_length": 1695,
"cds_start": 1059,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_024537.4",
"gene_hgnc_id": 25695,
"gene_symbol": "CARS2",
"hgvs_c": "c.1059C>A",
"hgvs_p": "p.Ile353Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000257347.9",
"protein_coding": true,
"protein_id": "NP_078813.1",
"strand": false,
"transcript": "NM_024537.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 564,
"aa_ref": "I",
"aa_start": 353,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1838,
"cdna_start": 1082,
"cds_end": null,
"cds_length": 1695,
"cds_start": 1059,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000257347.9",
"gene_hgnc_id": 25695,
"gene_symbol": "CARS2",
"hgvs_c": "c.1059C>A",
"hgvs_p": "p.Ile353Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_024537.4",
"protein_coding": true,
"protein_id": "ENSP00000257347.4",
"strand": false,
"transcript": "ENST00000257347.9",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 358,
"aa_ref": "S",
"aa_start": 331,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1211,
"cdna_start": 1015,
"cds_end": null,
"cds_length": 1077,
"cds_start": 992,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_017020742.3",
"gene_hgnc_id": 25695,
"gene_symbol": "CARS2",
"hgvs_c": "c.992C>A",
"hgvs_p": "p.Ser331*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016876231.1",
"strand": false,
"transcript": "XM_017020742.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 358,
"aa_ref": "S",
"aa_start": 331,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1256,
"cdna_start": 1015,
"cds_end": null,
"cds_length": 1077,
"cds_start": 992,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047430608.1",
"gene_hgnc_id": 25695,
"gene_symbol": "CARS2",
"hgvs_c": "c.992C>A",
"hgvs_p": "p.Ser331*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286564.1",
"strand": false,
"transcript": "XM_047430608.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 612,
"aa_ref": "I",
"aa_start": 353,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1976,
"cdna_start": 1078,
"cds_end": null,
"cds_length": 1839,
"cds_start": 1059,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000939453.1",
"gene_hgnc_id": 25695,
"gene_symbol": "CARS2",
"hgvs_c": "c.1059C>A",
"hgvs_p": "p.Ile353Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609512.1",
"strand": false,
"transcript": "ENST00000939453.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 562,
"aa_ref": "I",
"aa_start": 351,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1843,
"cdna_start": 1082,
"cds_end": null,
"cds_length": 1689,
"cds_start": 1053,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000890914.1",
"gene_hgnc_id": 25695,
"gene_symbol": "CARS2",
"hgvs_c": "c.1053C>A",
"hgvs_p": "p.Ile351Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560973.1",
"strand": false,
"transcript": "ENST00000890914.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 562,
"aa_ref": "I",
"aa_start": 353,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1854,
"cdna_start": 1099,
"cds_end": null,
"cds_length": 1689,
"cds_start": 1059,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000939450.1",
"gene_hgnc_id": 25695,
"gene_symbol": "CARS2",
"hgvs_c": "c.1059C>A",
"hgvs_p": "p.Ile353Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609509.1",
"strand": false,
"transcript": "ENST00000939450.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 536,
"aa_ref": "I",
"aa_start": 325,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1767,
"cdna_start": 1009,
"cds_end": null,
"cds_length": 1611,
"cds_start": 975,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000939451.1",
"gene_hgnc_id": 25695,
"gene_symbol": "CARS2",
"hgvs_c": "c.975C>A",
"hgvs_p": "p.Ile325Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609510.1",
"strand": false,
"transcript": "ENST00000939451.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 531,
"aa_ref": "I",
"aa_start": 353,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1762,
"cdna_start": 1099,
"cds_end": null,
"cds_length": 1596,
"cds_start": 1059,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000890913.1",
"gene_hgnc_id": 25695,
"gene_symbol": "CARS2",
"hgvs_c": "c.1059C>A",
"hgvs_p": "p.Ile353Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560972.1",
"strand": false,
"transcript": "ENST00000890913.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 519,
"aa_ref": "I",
"aa_start": 308,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1709,
"cdna_start": 957,
"cds_end": null,
"cds_length": 1560,
"cds_start": 924,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000939452.1",
"gene_hgnc_id": 25695,
"gene_symbol": "CARS2",
"hgvs_c": "c.924C>A",
"hgvs_p": "p.Ile308Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609511.1",
"strand": false,
"transcript": "ENST00000939452.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 387,
"aa_ref": "I",
"aa_start": 176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1288,
"cdna_start": 529,
"cds_end": null,
"cds_length": 1164,
"cds_start": 528,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000960810.1",
"gene_hgnc_id": 25695,
"gene_symbol": "CARS2",
"hgvs_c": "c.528C>A",
"hgvs_p": "p.Ile176Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630869.1",
"strand": false,
"transcript": "ENST00000960810.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 366,
"aa_ref": "I",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1235,
"cdna_start": 481,
"cds_end": null,
"cds_length": 1101,
"cds_start": 465,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000890915.1",
"gene_hgnc_id": 25695,
"gene_symbol": "CARS2",
"hgvs_c": "c.465C>A",
"hgvs_p": "p.Ile155Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560974.1",
"strand": false,
"transcript": "ENST00000890915.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 302,
"aa_ref": "I",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1949,
"cdna_start": 1193,
"cds_end": null,
"cds_length": 909,
"cds_start": 273,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001352252.2",
"gene_hgnc_id": 25695,
"gene_symbol": "CARS2",
"hgvs_c": "c.273C>A",
"hgvs_p": "p.Ile91Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001339181.1",
"strand": false,
"transcript": "NM_001352252.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 487,
"aa_ref": "I",
"aa_start": 353,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1751,
"cdna_start": 1082,
"cds_end": null,
"cds_length": 1464,
"cds_start": 1059,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047430605.1",
"gene_hgnc_id": 25695,
"gene_symbol": "CARS2",
"hgvs_c": "c.1059C>A",
"hgvs_p": "p.Ile353Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286561.1",
"strand": false,
"transcript": "XM_047430605.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 451,
"aa_ref": "I",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1977,
"cdna_start": 1221,
"cds_end": null,
"cds_length": 1356,
"cds_start": 720,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_006719953.4",
"gene_hgnc_id": 25695,
"gene_symbol": "CARS2",
"hgvs_c": "c.720C>A",
"hgvs_p": "p.Ile240Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006720016.1",
"strand": false,
"transcript": "XM_006719953.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 449,
"aa_ref": "I",
"aa_start": 238,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1561,
"cdna_start": 805,
"cds_end": null,
"cds_length": 1350,
"cds_start": 714,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047430606.1",
"gene_hgnc_id": 25695,
"gene_symbol": "CARS2",
"hgvs_c": "c.714C>A",
"hgvs_p": "p.Ile238Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286562.1",
"strand": false,
"transcript": "XM_047430606.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 446,
"aa_ref": "I",
"aa_start": 353,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1560,
"cdna_start": 1082,
"cds_end": null,
"cds_length": 1341,
"cds_start": 1059,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047430607.1",
"gene_hgnc_id": 25695,
"gene_symbol": "CARS2",
"hgvs_c": "c.1059C>A",
"hgvs_p": "p.Ile353Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286563.1",
"strand": false,
"transcript": "XM_047430607.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 302,
"aa_ref": "I",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1330,
"cdna_start": 574,
"cds_end": null,
"cds_length": 909,
"cds_start": 273,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047430609.1",
"gene_hgnc_id": 25695,
"gene_symbol": "CARS2",
"hgvs_c": "c.273C>A",
"hgvs_p": "p.Ile91Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286565.1",
"strand": false,
"transcript": "XM_047430609.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2747,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000375781.9",
"gene_hgnc_id": 25695,
"gene_symbol": "CARS2",
"hgvs_c": "n.330C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000375781.9",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1223,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000481787.6",
"gene_hgnc_id": 25695,
"gene_symbol": "CARS2",
"hgvs_c": "n.493C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000481787.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 844,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000487253.6",
"gene_hgnc_id": 25695,
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